Results 51 to 60 of about 9,987 (182)

Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant

Stem Cell Research
Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment.
Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, Elisa Maria Turco, Martina Mazzoni, Barbara Torres, Paola Zanfardino, Edvige Vulcano, Daniela Ferrari, Devid Damiani, Filippo M. Santorelli, Alessandro De Luca, Maria Pennuto, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Diana Rosati   +15 more
doaj   +1 more source

Genotype-Phenotype Correlations in Autosomal Dominant Optic Atrophy

, 2022
Autosomal dominant optic atrophy (DOA) is the commonest inherited optic neuropathy, yet there is limited natural history data on disease progression.
Joshua Harvey; Eun Hee Hong; Gerard Smits; Neringa Jerkute; Gavin Arno; Victoria Nesbitt; Marcela Votruba; Patrick Yu-Wai-Man, Joshua Harvey, MA, BM, BCh, FRCOphth   +1 more
core  

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis

BMC Ophthalmology, 2022
Purpose To describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1-related autosomal dominant optic atrophy (ADOA) and define the phenotype-genotype correlations.
Jinfeng Han, Ya Li, Ya You, Ke Fan, Bo Lei   +4 more
doaj   +1 more source

Visual and psychological morbidity among patients with autosomal dominant optic atrophy [PDF]

Acta Ophthalmologica, 2013
Editor, Autosomal dominant optic atrophy (DOA) is the most common inherited optic nerve disorder seen in neuro-ophthalmological practice (Yu-Wai-Man et al. 2011). The majority of patients with DOA harbour pathogenic mutations within the OPA1 gene, which codes for an inner mitochondrial membrane protein intricately involved in mitochondrial ...
Bailie, Maura, Votruba, Marcela, Griffiths, Philip G, Chinnery, Patrick F, Yu-Wai-Man, Patrick   +4 more
openaire   +2 more sources

Genetic testing for optic atrophy

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner, rarely in an autosomal recessive manner, with an ...
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

Genetic heterogeneity in autosomal dominant optic atrophy

, 2002
Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This disease has been mapped to a 1.4 cM
Maumenee, Irene Hussels, Sallum, Juliana Maria Ferraz [UNIFESP], Farah, Michel Eid, Farah, Michel Eid [UNIFESP], Sallum, Juliana Maria Ferraz   +4 more
core   +1 more source

Neuroinflammatory Mechanisms of Mitochondrial Dysfunction and Neurodegeneration in Glaucoma

Journal of Ophthalmology, 2021
The exact mechanism of retinal ganglion cell loss in the pathogenesis of glaucoma is yet to be understood. Mitochondrial damage-associated molecular patterns (DAMPs) resulting from mitochondrial dysfunction have been linked to Leber’s hereditary optic ...
Joao N. Duarte
doaj   +1 more source

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

PLoS ONE, 2021
Autosomal dominant optic atrophy is one of the most common inherited optic neuropathies. This disease is genetically heterogeneous, but most cases are due to pathogenic variants in the OPA1 gene: depending on the population studied, 32-90% of cases ...
Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger   +11 more
doaj   +1 more source

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy [PDF]

Genetics in Medicine, 2006
Autosomal dominant optic atrophy is a form of blindness, due in part to mutations affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-negative families exhibit variable expressivity and incomplete penetrance. The purpose of this study was therefore to determine if the background mtDNA genotype acts as a genetic modifier ...
Jian, Han, Angela J, Thompson-Lowrey, Alyson, Reiss, Vladimir, Mayorov, Haomiao, Jia, Valerie, Biousse, Nancy J, Newman, Michael D, Brown   +7 more
openaire   +2 more sources

New avenues for therapy in mitochondrial optic neuropathies

Therapeutic Advances in Rare Disease, 2021
Mitochondrial optic neuropathies are a group of optic nerve atrophies exemplified by the two commonest conditions in this group, autosomal dominant optic atrophy (ADOA) and Leber’s hereditary optic neuropathy (LHON).
Wing Sum Vincent Ng, Matthieu Trigano, Thomas Freeman, Carmine Varrichio, Dinesh Kumar Kandaswamy, Ben Newland, Andrea Brancale, Malgorzata Rozanowska, Marcela Votruba   +8 more
doaj   +1 more source